Incidental Mutation 'R1768:Arid4a'
ID 194625
Institutional Source Beutler Lab
Gene Symbol Arid4a
Ensembl Gene ENSMUSG00000048118
Gene Name AT-rich interaction domain 4A
Synonyms A630067N03Rik, Rbbp1
MMRRC Submission 039799-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1768 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 71062764-71145366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71122112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 509 (S509N)
Ref Sequence ENSEMBL: ENSMUSP00000121319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046305] [ENSMUST00000135709]
AlphaFold F8VPQ2
Predicted Effect probably benign
Transcript: ENSMUST00000046305
AA Change: S831N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: S831N

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
TUDOR 58 114 3.6e-12 SMART
low complexity region 152 167 N/A INTRINSIC
Pfam:RBB1NT 170 262 4e-32 PFAM
ARID 306 397 6.7e-37 SMART
BRIGHT 310 402 2.3e-40 SMART
low complexity region 411 422 N/A INTRINSIC
CHROMO 483 652 6.8e-6 SMART
low complexity region 690 707 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
low complexity region 991 1003 N/A INTRINSIC
coiled coil region 1185 1224 N/A INTRINSIC
low complexity region 1229 1252 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135709
AA Change: S509N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118
AA Change: S509N

DomainStartEndE-ValueType
ARID 1 75 1.02e-16 SMART
BRIGHT 1 80 2.05e-23 SMART
low complexity region 89 100 N/A INTRINSIC
CHROMO 161 330 1.08e-3 SMART
low complexity region 368 385 N/A INTRINSIC
Meta Mutation Damage Score 0.0691 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 91% (107/117)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered DNA methylation patterns, disrupted hematopoiesis and a portion develop acute myeloid leukemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,623,470 (GRCm39) R60P possibly damaging Het
Aox1 T A 1: 58,393,354 (GRCm39) C1199S probably benign Het
Arhgap18 G A 10: 26,763,857 (GRCm39) M482I probably damaging Het
Arhgap18 G T 10: 26,763,858 (GRCm39) A483S probably damaging Het
BC051019 T C 7: 109,322,381 (GRCm39) T38A probably benign Het
Bcam T C 7: 19,499,543 (GRCm39) N192S probably null Het
Bend5 A T 4: 111,311,438 (GRCm39) K351* probably null Het
Bicdl2 T A 17: 23,884,923 (GRCm39) M208K probably damaging Het
Ccp110 A T 7: 118,325,247 (GRCm39) probably null Het
Cdc6 A T 11: 98,803,043 (GRCm39) T328S probably damaging Het
Cdk5rap2 G T 4: 70,225,470 (GRCm39) N558K probably benign Het
Cdkn1c C T 7: 143,012,858 (GRCm39) R146K probably benign Het
Ceacam18 G A 7: 43,297,918 (GRCm39) C371Y probably benign Het
Cep95 T A 11: 106,697,177 (GRCm39) C233* probably null Het
Chrnd A G 1: 87,122,650 (GRCm39) I144V probably benign Het
Col6a4 T A 9: 105,957,299 (GRCm39) Q175L probably benign Het
Cym A T 3: 107,120,816 (GRCm39) V263E probably damaging Het
Cyp2a4 G T 7: 26,012,197 (GRCm39) V327F possibly damaging Het
Dhx29 T A 13: 113,084,774 (GRCm39) M664K probably damaging Het
Dlec1 T G 9: 118,975,075 (GRCm39) probably null Het
Dna2 T C 10: 62,792,863 (GRCm39) Y293H probably benign Het
Dnase1l3 T A 14: 7,974,104 (GRCm38) N196Y probably damaging Het
Eea1 T A 10: 95,832,822 (GRCm39) D222E probably damaging Het
Efcab14 A T 4: 115,610,116 (GRCm39) probably null Het
Entpd5 C T 12: 84,432,985 (GRCm39) R189H probably benign Het
Exoc4 A T 6: 33,734,985 (GRCm39) K534M probably damaging Het
Extl1 T A 4: 134,098,449 (GRCm39) Y194F probably benign Het
Eya1 A G 1: 14,323,299 (GRCm39) L161S possibly damaging Het
Fam163b T C 2: 27,002,874 (GRCm39) E41G possibly damaging Het
Fam180a A C 6: 35,292,287 (GRCm39) S40A probably benign Het
Fbxl4 T C 4: 22,385,950 (GRCm39) S186P probably benign Het
Fbxw19 A T 9: 109,323,840 (GRCm39) L45* probably null Het
Fgf14 G T 14: 124,913,924 (GRCm39) T69N probably benign Het
Flt1 A G 5: 147,609,519 (GRCm39) Y432H probably damaging Het
Frmd4b A T 6: 97,283,725 (GRCm39) L374Q possibly damaging Het
G6pc2 T A 2: 69,053,321 (GRCm39) V125D probably damaging Het
Gm10033 T C 8: 69,826,210 (GRCm39) I119M unknown Het
Gna15 A T 10: 81,347,954 (GRCm39) L164Q probably damaging Het
Gnaz C A 10: 74,827,702 (GRCm39) D151E possibly damaging Het
Has1 T C 17: 18,070,562 (GRCm39) T120A probably benign Het
Hectd4 T A 5: 121,496,366 (GRCm39) D3919E possibly damaging Het
Hs3st5 A G 10: 36,709,165 (GRCm39) I233M probably benign Het
Ilf3 T C 9: 21,314,438 (GRCm39) probably benign Het
Inpp5b T A 4: 124,687,069 (GRCm39) L765* probably null Het
Insr A T 8: 3,209,561 (GRCm39) I1174N probably damaging Het
Kash5 T A 7: 44,838,227 (GRCm39) probably null Het
Kcnq3 A G 15: 65,877,755 (GRCm39) L445P probably damaging Het
Kctd20 A T 17: 29,181,824 (GRCm39) N159Y probably damaging Het
Kctd20 A T 17: 29,185,755 (GRCm39) D366V probably damaging Het
Klk15 T C 7: 43,587,757 (GRCm39) probably benign Het
Lama4 T G 10: 38,979,497 (GRCm39) N1658K possibly damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mas1 T C 17: 13,060,586 (GRCm39) Y279C probably damaging Het
Mast2 G T 4: 116,164,156 (GRCm39) D1747E probably damaging Het
Mest G A 6: 30,745,138 (GRCm39) M235I probably benign Het
Mfsd6 A G 1: 52,699,964 (GRCm39) probably null Het
Mllt10 T A 2: 18,167,657 (GRCm39) S449R probably damaging Het
Mon2 T A 10: 122,849,668 (GRCm39) T1211S probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Myh15 A T 16: 48,983,498 (GRCm39) T1538S probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Npy1r A G 8: 67,157,177 (GRCm39) D199G possibly damaging Het
Numbl A G 7: 26,980,379 (GRCm39) T454A probably benign Het
Nutm2 T G 13: 50,627,152 (GRCm39) F436V probably damaging Het
Opa1 T C 16: 29,439,628 (GRCm39) S773P probably benign Het
Or12e1 T A 2: 87,022,042 (GRCm39) S4T probably benign Het
Or2d3 A T 7: 106,491,184 (GRCm39) probably null Het
Or2d3 G T 7: 106,491,185 (GRCm39) L44M probably damaging Het
Or2r11 A G 6: 42,437,611 (GRCm39) L114S probably damaging Het
Or2t48 A G 11: 58,420,602 (GRCm39) L70P probably damaging Het
Or51b17 A G 7: 103,542,484 (GRCm39) S153P probably benign Het
Or51m1 C T 7: 103,578,932 (GRCm39) R301* probably null Het
Or52e7 A G 7: 104,685,157 (GRCm39) S251G probably benign Het
Or52i2 A G 7: 102,319,508 (GRCm39) Y127C probably damaging Het
Or8b12c T A 9: 37,715,599 (GRCm39) Y131N probably damaging Het
Pde8a G C 7: 80,950,471 (GRCm39) probably null Het
Pgam1 T C 19: 41,906,144 (GRCm39) F232S probably damaging Het
Pgk1 T A X: 105,243,914 (GRCm39) V303E possibly damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Plxnc1 C T 10: 94,680,184 (GRCm39) V824I probably benign Het
Ppp6r1 A G 7: 4,636,691 (GRCm39) probably null Het
Rapgef4 C A 2: 72,056,131 (GRCm39) probably benign Het
Rars1 T A 11: 35,700,465 (GRCm39) T539S probably damaging Het
Rbm44 G T 1: 91,081,679 (GRCm39) probably null Het
Samd4b A G 7: 28,113,317 (GRCm39) I216T probably benign Het
Serpine2 A C 1: 79,794,532 (GRCm39) F134V probably damaging Het
Shmt1 A G 11: 60,683,790 (GRCm39) Y341H probably damaging Het
Slc23a2 C A 2: 131,917,561 (GRCm39) V226F probably benign Het
Slc23a4 A G 6: 34,933,896 (GRCm39) I69T probably damaging Het
Slc37a1 C A 17: 31,552,652 (GRCm39) T319K possibly damaging Het
Slc6a4 A T 11: 76,904,078 (GRCm39) T178S probably damaging Het
Smarca4 G A 9: 21,612,479 (GRCm39) A1588T possibly damaging Het
Spag17 A T 3: 99,934,668 (GRCm39) Y650F possibly damaging Het
Stab2 C T 10: 86,838,872 (GRCm39) G65S probably damaging Het
Stambpl1 C G 19: 34,204,121 (GRCm39) N70K probably damaging Het
Stip1 C A 19: 6,999,165 (GRCm39) C471F probably damaging Het
Taf1 T C X: 100,584,500 (GRCm39) S223P probably benign Het
Tchh C A 3: 93,350,882 (GRCm39) N107K possibly damaging Het
Tenm3 A C 8: 48,685,139 (GRCm39) H2432Q probably damaging Het
Tmem243 A G 5: 9,168,548 (GRCm39) N110S probably damaging Het
Toe1 A T 4: 116,662,076 (GRCm39) I306F probably benign Het
Trank1 G A 9: 111,221,995 (GRCm39) V2911M probably damaging Het
Trpm4 A G 7: 44,958,036 (GRCm39) I811T probably damaging Het
Tspear T A 10: 77,710,950 (GRCm39) probably null Het
Ttc28 A T 5: 111,425,034 (GRCm39) I1589F possibly damaging Het
Tubgcp3 A G 8: 12,699,686 (GRCm39) probably benign Het
U2af2 C A 7: 5,070,544 (GRCm39) R78S probably benign Het
Wdr17 A T 8: 55,126,689 (GRCm39) D388E possibly damaging Het
Wdr3 A T 3: 100,061,186 (GRCm39) S261T probably benign Het
Zfp667 A G 7: 6,308,066 (GRCm39) N245D possibly damaging Het
Zfp692 A G 11: 58,201,002 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,370 (GRCm39) H953R probably benign Het
Other mutations in Arid4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Arid4a APN 12 71,119,367 (GRCm39) missense probably damaging 1.00
IGL00546:Arid4a APN 12 71,122,445 (GRCm39) missense probably benign
IGL00553:Arid4a APN 12 71,122,751 (GRCm39) missense probably benign 0.04
IGL00708:Arid4a APN 12 71,119,502 (GRCm39) missense probably benign 0.02
IGL00847:Arid4a APN 12 71,122,492 (GRCm39) missense probably damaging 1.00
IGL01112:Arid4a APN 12 71,119,507 (GRCm39) critical splice donor site probably null
IGL01456:Arid4a APN 12 71,114,036 (GRCm39) missense probably benign 0.00
IGL01505:Arid4a APN 12 71,083,889 (GRCm39) missense probably damaging 1.00
IGL01555:Arid4a APN 12 71,108,301 (GRCm39) splice site probably benign
IGL01631:Arid4a APN 12 71,069,036 (GRCm39) splice site probably benign
IGL02958:Arid4a APN 12 71,144,337 (GRCm39) missense probably benign 0.01
IGL03087:Arid4a APN 12 71,122,019 (GRCm39) missense possibly damaging 0.94
IGL03111:Arid4a APN 12 71,086,740 (GRCm39) missense probably damaging 1.00
IGL03234:Arid4a APN 12 71,091,834 (GRCm39) missense probably benign 0.34
After_8 UTSW 12 71,070,272 (GRCm39) critical splice acceptor site probably null
ariano UTSW 12 71,116,634 (GRCm39) nonsense probably null
Dusty UTSW 12 71,106,867 (GRCm39) missense probably damaging 1.00
guava UTSW 12 71,119,406 (GRCm39) missense probably damaging 0.99
limoncello UTSW 12 71,114,115 (GRCm39) splice site probably null
Sahara UTSW 12 71,106,889 (GRCm39) nonsense probably null
Under_8 UTSW 12 71,109,980 (GRCm39) missense probably benign 0.10
R0047:Arid4a UTSW 12 71,122,193 (GRCm39) missense probably damaging 1.00
R0047:Arid4a UTSW 12 71,122,193 (GRCm39) missense probably damaging 1.00
R0270:Arid4a UTSW 12 71,119,406 (GRCm39) missense probably damaging 0.99
R0310:Arid4a UTSW 12 71,122,604 (GRCm39) missense probably benign 0.05
R0504:Arid4a UTSW 12 71,093,988 (GRCm39) missense probably damaging 1.00
R1061:Arid4a UTSW 12 71,121,729 (GRCm39) missense probably damaging 1.00
R1087:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1169:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1171:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1531:Arid4a UTSW 12 71,122,779 (GRCm39) missense probably benign 0.01
R1674:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1676:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1833:Arid4a UTSW 12 71,122,240 (GRCm39) missense possibly damaging 0.50
R1878:Arid4a UTSW 12 71,134,363 (GRCm39) missense probably damaging 1.00
R2290:Arid4a UTSW 12 71,108,315 (GRCm39) missense probably damaging 1.00
R2292:Arid4a UTSW 12 71,108,315 (GRCm39) missense probably damaging 1.00
R2871:Arid4a UTSW 12 71,069,034 (GRCm39) critical splice donor site probably null
R2871:Arid4a UTSW 12 71,069,034 (GRCm39) critical splice donor site probably null
R3411:Arid4a UTSW 12 71,108,299 (GRCm39) splice site probably benign
R3768:Arid4a UTSW 12 71,113,893 (GRCm39) missense probably damaging 1.00
R3838:Arid4a UTSW 12 71,122,559 (GRCm39) missense possibly damaging 0.94
R4320:Arid4a UTSW 12 71,116,769 (GRCm39) missense possibly damaging 0.69
R4589:Arid4a UTSW 12 71,116,738 (GRCm39) missense probably damaging 1.00
R4829:Arid4a UTSW 12 71,070,272 (GRCm39) critical splice acceptor site probably null
R4862:Arid4a UTSW 12 71,122,721 (GRCm39) missense probably damaging 0.96
R4952:Arid4a UTSW 12 71,070,299 (GRCm39) missense possibly damaging 0.64
R5072:Arid4a UTSW 12 71,091,853 (GRCm39) missense probably benign 0.08
R5423:Arid4a UTSW 12 71,116,634 (GRCm39) nonsense probably null
R5767:Arid4a UTSW 12 71,106,867 (GRCm39) missense probably damaging 1.00
R5911:Arid4a UTSW 12 71,116,747 (GRCm39) missense probably damaging 1.00
R5952:Arid4a UTSW 12 71,109,980 (GRCm39) missense probably benign 0.10
R6088:Arid4a UTSW 12 71,069,010 (GRCm39) missense probably damaging 0.99
R6235:Arid4a UTSW 12 71,116,546 (GRCm39) splice site probably null
R6277:Arid4a UTSW 12 71,086,665 (GRCm39) missense possibly damaging 0.49
R6455:Arid4a UTSW 12 71,121,862 (GRCm39) missense probably benign 0.04
R6523:Arid4a UTSW 12 71,114,115 (GRCm39) splice site probably null
R6701:Arid4a UTSW 12 71,134,286 (GRCm39) missense probably damaging 1.00
R6812:Arid4a UTSW 12 71,094,037 (GRCm39) missense possibly damaging 0.92
R6815:Arid4a UTSW 12 71,063,856 (GRCm39) splice site probably null
R6837:Arid4a UTSW 12 71,122,289 (GRCm39) missense probably benign
R6858:Arid4a UTSW 12 71,070,283 (GRCm39) missense probably benign 0.01
R6895:Arid4a UTSW 12 71,110,076 (GRCm39) missense probably benign 0.18
R6901:Arid4a UTSW 12 71,113,911 (GRCm39) missense probably damaging 0.99
R6905:Arid4a UTSW 12 71,108,318 (GRCm39) missense probably benign 0.43
R7387:Arid4a UTSW 12 71,134,270 (GRCm39) missense probably damaging 1.00
R7570:Arid4a UTSW 12 71,109,916 (GRCm39) nonsense probably null
R7772:Arid4a UTSW 12 71,108,363 (GRCm39) missense possibly damaging 0.65
R8194:Arid4a UTSW 12 71,106,889 (GRCm39) nonsense probably null
R8206:Arid4a UTSW 12 71,133,361 (GRCm39) missense probably damaging 1.00
R8552:Arid4a UTSW 12 71,106,849 (GRCm39) missense probably benign
R8696:Arid4a UTSW 12 71,110,090 (GRCm39) missense probably damaging 1.00
R9015:Arid4a UTSW 12 71,122,168 (GRCm39) missense possibly damaging 0.89
R9109:Arid4a UTSW 12 71,122,129 (GRCm39) missense probably damaging 1.00
R9450:Arid4a UTSW 12 71,119,374 (GRCm39) missense
Z1176:Arid4a UTSW 12 71,086,694 (GRCm39) missense possibly damaging 0.89
Z1177:Arid4a UTSW 12 71,122,411 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TCATCTGATAGTGAGGCAGACGACC -3'
(R):5'- ATCGTCAGACCTCTCTTGGGACAC -3'

Sequencing Primer
(F):5'- GGACAGCGATCAAATTGTGC -3'
(R):5'- GGGACACTCCAGTTGTCATTTC -3'
Posted On 2014-05-23